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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Kniest Like Dysplasia Lethal
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Accession:DOID:9005084 term browser browse the term
Synonyms:exact_synonym: Arthrosis, flat face, hypotonia, short neck and macrocephaly;   lethal Kniest-like syndrome
 primary_id: MESH:C537208
 alt_id: MIM:245190;   RDO:0002997

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show annotations for term's descendants           Sort by:
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624764:6,631,231...6,639,010 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14212
    disease of cellular proliferation 6873
      Hereditary Neoplastic Syndromes 1373
        hereditary multiple exostoses 31
          Kniest Like Dysplasia Lethal 2
Path 2
Term Annotations click to browse term
  disease 14212
    Developmental Disease 12486
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11722
        genetic disease 11443
          monogenic disease 9835
            autosomal genetic disease 9440
              autosomal dominant disease 6126
                complex cortical dysplasia with other brain malformations 1557
                  Malformations of Cortical Development, Group I 1330
                    Macrocephaly 84
                      Kniest Like Dysplasia Lethal 2
paths to the root